| scholarly article | Q13442814 |
| P356 | DOI | 10.1002/(SICI)1098-1004(1998)12:1<44::AID-HUMU7>3.0.CO;2-O |
| P698 | PubMed publication ID | 9633819 |
| P50 | author | Gerd Schmitz | Q45710760 |
| Christoph Gasche | Q56704803 | ||
| P2093 | author name string | Axel Schambach | |
| Stefan Ries | |||
| Charalampos Aslanidis | |||
| Christa Büchler | |||
| Detlev Ameis | |||
| Heiner Greten | |||
| Marie T. Vanier | |||
| Dominique C. Belli | |||
| Gisela Schindler | |||
| Nikola Jung | |||
| Petra Fehringer | |||
| P433 | issue | 1 | |
| P921 | main subject | sterol esterase activity | Q21108360 |
| Lipase A, lysosomal acid type | Q21122300 | ||
| heterozygosity | Q124059385 | ||
| P304 | page(s) | 44-51 | |
| P577 | publication date | 1998-01-01 | |
| P1433 | published in | Human Mutation | Q5937269 |
| P1476 | title | Different missense mutations in histidine-108 of lysosomal acid lipase cause cholesteryl ester storage disease in unrelated compound heterozygous and hemizygous individuals | |
| P478 | volume | 12 |
| Q22003951 | A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome) |
| Q58103250 | Combined Hepatocellular-Cholangiocarcinoma in a Patient with Cirrhosis due to Cholesteryl Ester Storage Disease |
| Q36948239 | Frequency of the cholesteryl ester storage disease common LIPA E8SJM mutation (c.894G>A) in various racial and ethnic groups. |
| Q37192569 | Intragenic deletion as a novel type of mutation in Wolman disease |
| Q40562543 | Lipoprotein (a) downregulates lysosomal acid lipase and induces interleukin-6 in human blood monocytes |
| Q29618493 | Listening to silence and understanding nonsense: exonic mutations that affect splicing |
| Q47141529 | Lysosomal Acid Lipase Deficiency in 23 Spanish Patients: High Frequency of the Novel c.966+2T>G Mutation in Wolman Disease |
| Q82789636 | Structural bases of Wolman disease and cholesteryl ester storage disease |
| Q37717441 | Targeting Wolman Disease and Cholesteryl Ester Storage Disease: Disease Pathogenesis and Therapeutic Development |
| Q52164742 | Wolman disease successfully treated by bone marrow transplantation. |
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